GSTZ1 gene related symptoms and diseases
All the information presented here about the GSTZ1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to GSTZ1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Hepatic failure | Very Common - Between 80% and 100% cases |
| Rickets | Very Common - Between 80% and 100% cases |
| Hypertyrosinemia | Very Common - Between 80% and 100% cases |
Rare diseases associated to GSTZ1 gene
Here you will find a list of rare diseases related to the GSTZ1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
MALEYLACETOACETATE ISOMERASE DEFICIENCY; MAAID
Alternate names
MALEYLACETOACETATE ISOMERASE DEFICIENCY; MAAID Is also known as mhsa, maai deficiency, bhsa, hypersuccinylacetonemia, mild, benign hypersuccinylacetonemia
Description
Deficiency of maleylacetoacetate isomerase (MAAID) is characterized by mild elevations in succinylacetone in blood and urine, usually identified by newborn screening. Liver function and coagulation are normal. MAAID is differentiated from hepatorenal tyrosinemia (TYRSN1 ), which is also identified by hypersuccinylacetonemia on newborn screening but is a severe disorder with hepatic failure, renal tubulopathy, rickets, and porphyria-like neurologic crises. MAAID and TYRSN1 are caused by mutations in genes encoding the penultimate and ultimate enzymes, respectively, in the phenylalanine and tyrosine degradation pathway (summary by Yang et al., 2017).
Most common symptoms of MALEYLACETOACETATE ISOMERASE DEFICIENCY; MAAID
- Hepatic failure
- Rickets
- Hypertyrosinemia
More info about MALEYLACETOACETATE ISOMERASE DEFICIENCY; MAAID
SOURCES: OMIM
Search interest in GSTZ1
Potential gene panels for GSTZ1 gene
Tyrosinemia type Ib (sequence analysis of GSTZ1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the GSTZ1 gene.
More info about this panel Portugal.
Tyrosinemia type 1B Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the GSTZ1 gene.
More info about this panel Germany.
GSTZ1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the GSTZ1 gene.
More info about this panel United States.
Tyrosinemia NGS and Deletion/Duplication Panel Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Tyrosinemia NGS and Deletion/Duplication Panel that also includes the following genes: TAT FAH GSTZ1 HPD
More info about this panel United States.
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